Utility of secondgeneration sequencing and third-generation sequencing in the diagnosis of patients with intellectual disability: Rapid review | 2023 | Psiquiatria Biologica | 10.1016/J.PSIQ.2 023.100392 |
Cornelia de Lange Syndrome Caused by an Intragenic Heterozygous Deletion in RAD21 Detected through Very- High-Resolution Chromosomal Microarray Analysis | 2023 | Genes | 10.3390/GENES1 4122212 |
The ESX-4 substrates, EsxU and EsxT, modulate Mycobacterium abscessus fitness | 2022 | PLoS Pathogens | 10.1371/JOURNA L.PPAT.1010771 |
C25-modified rifamycin derivatives with improved activity against Mycobacterium abscessus | 2022 | PNAS Nexus | 10.1093/pnasnexus/pgac130 |
Secretome characterization of clinical isolates from the Mycobacterium abscessus complex provides insight into antigenic differences | 2021 | BMC Genomics | 10.1186/S12864- 021-07670-7 |
Conserved and specialized functions of Type VII secretion systems in nontuberculous mycobacteria | 2021 | MICROBIOLOGYSGM | 10.1099/MIC.0.00 1054 |
Variantes en el número de copias en trastornos del neurodesarrollo, síndrome malformativo y talla baja en Perú | 2020 | ACTA MEDICA PERUANA | 10.35663/AMP.20 20.372.915 |
Homozygous Deletion of the CFTR Gene Caused by Interstitial Maternal Isodisomy in a Peruvian Child with Cystic Fibrosis | 2019 | Journal of Pediatric Genetics | 10.1055/s-0039- 1678682 |
GATAD2B Gene microdeletion causing intellectual disability autosomal dominant type 18: Case report and review of the literature | 2019 | Molecular Syndromology | 10.1159/0004992 09 |
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome | 2018 | American Journal of Medical Genetics, Part A | 10.1002/AJMG.A. 40508 |
Novel contiguous gene deletion in peruvian girl with Trichothiodystrop hy type 4 and glutaric aciduria type 3 | 2018 | European Journal of Medical Genetics | 10.1016/J.EJMG. 2018.02.004 |
Chromosomal microarray analysis in Peruvian children with delayed psychomotor development or intellectual disability | 2017 | Revista Peruana de Medicina de Experimental y Salud Publica | 10.17843/RPMES P.2017.343.2741 |
The Neutrophil NLRC4 Inflammasome Selectively Promotes IL-1 Maturation without Pyroptosis during Acute Salmonella Challenge | 2014 | Cell Rep | 10.1016/j.celrep.2 014.06.028 |